Information on Kearns Sayre Syndrome

Kearns-Sayre Syndrome belongs (in part) to a group of rare neuromuscular disorders known as mitochondrial encephalomyopathies. Kearns-Sayre Syndrome (KSS) is a very uncommon fatal multisystem disorder which generally affects female and males before the age of 20, and it is characterized by progressive outer ophthalmoplegia, gentle skeletal muscle weakness, retinal pigmentation, left bundle branch block or intracardiac conduction blemish. It is the cause of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the power that drives cellular functions.

The mitochondrial diseases associate with specific DNA mutations that cause problems with lots of of the organs and tissues in the body. Mitochondrial encephalomyopathies are disorders in which a blemish in genetic material arises from a part of the cell structure that releases energy (mitochondria), causing the brain and muscles to function improperly (encephalomyopathies).

Additional symptoms may comprise meek skeletal muscle weakness, heart block, and short stature, hearing loss, an inability to direct voluntary movements, impaired cognitive function, and diabetes. Seizures are rare. Several endocrine disorders can be linked with KSS. There is no treatment which can sure or stop Kearns Sayre syndrome, and unfortunately its effects become worse over time. Treatment for Kearns-Sayre Syndrome is generally symptomatic and supportive. Cardiac abnormalities may be treated with different cardiac drugs or a pacemaker. Exercise may assist maintain or enlarge muscle strength.